Prenatal diagnosis of rhizomelic chondrodysplasia punctata due to isolated alkyldihydroacetonephosphate acyltransferase synthase deficiency

Karen M. Brookhyser; Mark H. Lipson; Ann B. Moser; Hugo W. Moser; Ralph S. Lachman; David L. Rimoin

doi:10.1002/(SICI)1097-0223(199904)19:4<383::AID-PD544>3.0.CO;2-S

Prenatal diagnosis of rhizomelic chondrodysplasia punctata due to isolated alkyldihydroacetonephosphate acyltransferase synthase deficiency

Karen M. Brookhyser, Mark H. Lipson, Ann B. Moser, Hugo W. Moser, Ralph S. Lachman, David L. Rimoin

School of Medicine

Research output: Contribution to journal › Article › peer-review

8 Scopus citations

Abstract

Current practices in prenatal diagnosis of rhizomelic chondrodysplasia punctata (RCDP) are reviewed. A case is presented with a family having one daughter affected with RCDP due to alkyldihydroacetonephosphate acyltransferase synthase (DHAPAT synthase) deficiency, and three subsequent pregnancies. Biochemical test values are presented for the pregnancies and daughter. Post-mortem tests of one fetus of a terminated pregnancy showed that radiologic examination could not make the diagnosis of RCDP. We conclude that biochemical or molecular testing is necessary to accurately diagnose this type of RCDP prenatally.

Original language	English (US)
Pages (from-to)	383-385
Number of pages	3
Journal	Prenatal Diagnosis
Volume	19
Issue number	4
DOIs	https://doi.org/10.1002/(SICI)1097-0223(199904)19:4<383::AID-PD544>3.0.CO;2-S
State	Published - 1999

Keywords

DHAPAT synthase deficiency
Dwarfism
Prenatal diagnosis
Rhizomelic chondrodysplasia punctata

ASJC Scopus subject areas

Obstetrics and Gynecology
Genetics(clinical)

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10.1002/(SICI)1097-0223(199904)19:4<383::AID-PD544>3.0.CO;2-S

Cite this

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title = "Prenatal diagnosis of rhizomelic chondrodysplasia punctata due to isolated alkyldihydroacetonephosphate acyltransferase synthase deficiency",

abstract = "Current practices in prenatal diagnosis of rhizomelic chondrodysplasia punctata (RCDP) are reviewed. A case is presented with a family having one daughter affected with RCDP due to alkyldihydroacetonephosphate acyltransferase synthase (DHAPAT synthase) deficiency, and three subsequent pregnancies. Biochemical test values are presented for the pregnancies and daughter. Post-mortem tests of one fetus of a terminated pregnancy showed that radiologic examination could not make the diagnosis of RCDP. We conclude that biochemical or molecular testing is necessary to accurately diagnose this type of RCDP prenatally.",

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year = "1999",

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T1 - Prenatal diagnosis of rhizomelic chondrodysplasia punctata due to isolated alkyldihydroacetonephosphate acyltransferase synthase deficiency

AU - Brookhyser, Karen M.

AU - Lipson, Mark H.

AU - Moser, Ann B.

AU - Moser, Hugo W.

AU - Lachman, Ralph S.

AU - Rimoin, David L.

PY - 1999

Y1 - 1999

N2 - Current practices in prenatal diagnosis of rhizomelic chondrodysplasia punctata (RCDP) are reviewed. A case is presented with a family having one daughter affected with RCDP due to alkyldihydroacetonephosphate acyltransferase synthase (DHAPAT synthase) deficiency, and three subsequent pregnancies. Biochemical test values are presented for the pregnancies and daughter. Post-mortem tests of one fetus of a terminated pregnancy showed that radiologic examination could not make the diagnosis of RCDP. We conclude that biochemical or molecular testing is necessary to accurately diagnose this type of RCDP prenatally.

AB - Current practices in prenatal diagnosis of rhizomelic chondrodysplasia punctata (RCDP) are reviewed. A case is presented with a family having one daughter affected with RCDP due to alkyldihydroacetonephosphate acyltransferase synthase (DHAPAT synthase) deficiency, and three subsequent pregnancies. Biochemical test values are presented for the pregnancies and daughter. Post-mortem tests of one fetus of a terminated pregnancy showed that radiologic examination could not make the diagnosis of RCDP. We conclude that biochemical or molecular testing is necessary to accurately diagnose this type of RCDP prenatally.

KW - DHAPAT synthase deficiency

KW - Dwarfism

KW - Prenatal diagnosis

KW - Rhizomelic chondrodysplasia punctata

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Prenatal diagnosis of rhizomelic chondrodysplasia punctata due to isolated alkyldihydroacetonephosphate acyltransferase synthase deficiency

Abstract

Keywords

ASJC Scopus subject areas

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